Adam H. Buchanan

The paper explores professional perspectives on the value and feasibility of lifelong genomic medicine through interviews with 52 US-based professionals.

This study shows cardiovascular genetic counseling improves patient empowerment and reduces worry, with benefits varying by patient characteristics and the strength of the counselor-patient relationship.

This study explores health care professionals' views on the timing of returning genomic newborn screening results, finding parental choice is most endorsed but requires support for disclosure to children.

The paper surveys genetic professionals on the sufficiency of core informed consent concepts for genetic testing, finding high agreement on their adequacy for informed decision-making.

This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

This study identifies core concepts essential for informed consent in genetic testing through a Delphi process involving experts in genetics and bioethics.

This paper integrates monogenic, polygenic, and clinical risk factors to predict disease risk for carriers of rare variants, identifying elevated risk in 18.22% of UK Biobank participants for breast cancer, familial hypercholesterolemia, and colorectal cancer.

The paper describes a model for returning secondary genomic findings to participants and healthcare providers in a large research cohort, with 93% successful contact rates and 222 providers notified.

The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.